Cat Eye Syndrome

Cat Eye syndrome Cat eye syndrome is a rare chromosomal disorder that may be plain to see at birth. The name “cat eye syndrome” comes from a distinctive abnormality in the eye that is shown in some affected people. This feature consists of partial absence of ocular tissue often affecting both eyes. Affected ocular tissues may include the colored region, the middle layer, and/or the innermost membrane of the eye. Individuals with cat eye syndrome frequently have coloboma(s) (which is a structural defect of the eye), down slanting eyelid folds, widely spaced eyes and/or other ocular defects.
Discovery and cause: This disorder was discovered in 1898. In individuals with cat eye syndrome, the short arm and a small region of the long arm of chromosome 22 are present three or four times rather than twice in cells of the body. Symptoms: * Partial absence of the tissue pertaining to the eye * Mild or moderate mental retardation * Cat-like, downward slanting opening * Malformations of the facial and the skull region * Eyes are widely spaced Inherited: As cat eye syndrome is an inherited genetic disorder, it occurs by birth.
The defect can arise from either parent, as it can be transmitted through both sexes. The person is diagnosed considering the symptoms present in the body. Treatment: Treatment is given according to the severity of the symptoms. Patients with short stature are given growth hormone therapy. Miscellaneous: A recent study suggests that cat eye syndrome affects 1 in about 74000 people, making this a pretty rare disorder. This chromosomal disorder can occur in both, males and females. In many cases, individuals are born with this syndrome because it is prevalent in their families.

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